Submissions for variant NM_032806.6(POMGNT2):c.748C>A (p.Pro250Thr)

gnomAD frequency: 0.00001  dbSNP: rs759226377

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001039995	SCV001203547	uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	2022-04-09	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 838447). This variant has not been reported in the literature in individuals affected with POMGNT2-related conditions. This variant is present in population databases (rs759226377, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 250 of the POMGNT2 protein (p.Pro250Thr).
CeGaT Center for Human Genetics Tuebingen	RCV001815494	SCV002062458	uncertain significance	not provided	2021-11-01	criteria provided, single submitter	clinical testing